Kaposiform hemangioendotheliomas and tufted angiomas: Sirolimus for treating children

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Introduction. Kaposiform hemangioendothelioma (KHE) and tufted angioma (TA) are extremely rare vascular tumors characterized by pathologically progressive angiogenesis and lymphangiogenesis. They are also associated with the development of the KazabachMerritt Phenomenon (KMP; Kasabach-Merritt Phenomenon).
Material and methods. 8 patients (5 boys, 3 girls) with kaposiform hemangioendothelioma (two out of them with Kazabakh-Merritt syndrome) and 4 patients (3 boys, 1 girl) with tufted angioma were treated at the Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University (Moscow, Russia) . All patients were prescribed Sirolimus therapy for antiproliferative purpose.
Results. In all children, positive changes were registered: reduction of vascular tumor volume, gradual improvement of clinical picture and control of complications: pain syndrome, KMP, improvement or restoration of functions in affected organs /systems (increase/restoration of movement volume in joints, compensation for length discrepancy in lower legs). Complete resorption of vascular tumors and clinical symptoms were registered in 3 patients.
Conclusion. The obtained encouraging results after Sirolimus therapy prescribed for treating KME and TA allow the authors to recommend this therapy to patients with KME with or without KMP and TA. However, further researches with a large sample of participants is required to confirm the obtained results.

作者简介

Z. Kondrashova

Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University;
Pirogov Russian National Research Medical University

编辑信件的主要联系方式.
Email: z.a.kondrashova@gmail.com
ORCID iD: 0000-0001-6382-8057

 Zinaida А. Kondrashova, MD, hematologist, department of hematology and chemiotherapy 

 117997 Moscow 

 117997, Moscow 

俄罗斯联邦

E. Donyush

Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University;
Pirogov Russian National Research Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0002-4252-8829

 117997 Moscow 

 117997, Moscow 

俄罗斯联邦

E. Korotkaya

Pirogov Russian National Research Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0003-3196-901X

 117997, Moscow 

俄罗斯联邦

I. Kletskaya

Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0002-8552-7682

 117997 Moscow 

俄罗斯联邦

R. Garbuzov

Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0002-5287-7889

 117997 Moscow 

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Yu. Polyaev

Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0002-9554-6414

 117997 Moscow 

俄罗斯联邦

A. Myl’nikov

Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0003-3317-3058

 117997 Moscow 

俄罗斯联邦

参考

  1. Zukerberg L.R., Nickoloff B.J., Weiss S.W. Kaposiform hemangioendothelioma of infancy and childhood. An aggressive neoplasm associated with Kasabach-Merritt syndrome and lymphangiomatosis. Am J Surg Pathol. 1993 Apr; 17(4): 321–8.
  2. Croteau S.E., Liang M.G., Kozakewich H.P., et al. Kaposiform hemangioendothelioma: atypical features and risks of Kasabach–Merritt phenomenon in 107 referrals. J Pediatr. 2013 Jan; 162(1): 142–7.
  3. Ji Y., Chen S., Yang K., et al. Kaposiform hemangioendothelioma: current knowledge and future perspectives. Orphanet J Rare Dis. 2020 Feb 3; 15(1): 39.
  4. Mulliken J.B., Burrows P.E., Fishman S.J., Mulliken and Young’s Vascular Anomalies: Hemangiomas and Malformations. 2nd ed. Oxford, United Kingdom: Oxford University Press; 2013.
  5. Alessi E., Bertani E., Sala F. Acquired tufted angioma. Am J Dermatopathol. 1986; 8(5): 426–9.
  6. Jones E.W, Orkin M. Tufted angioma (angioblastoma). A benign progressive angioma, not to be confused with Kaposi’s sarcoma or lowgrade angiosarcoma. J Am Acad Dermatol. 1989; 20(2 Pt 1): 214–25.
  7. Karnes J.C., Lee B.T., Phung T., et al. Adult-onset kaposiform hemangioendothelioma in a posttraumatic site. Ann Plast Surg. 2009; 62(4): 456–8.
  8. Goyal A., Babu S.N., Kim V., et al. Hemangioendothelioma of liver and spleen: trauma-induced consumptive coagulopathy. J Pediatr Surg. 2002; 37(10): E29.
  9. Kim C.Y., Nam Y.H., Kim G.D., et al. Tufted angioma in site of healed herpes zoster: isotopic response. Clin Exp Dermatol. 2006; 31(5): 714–5.
  10. Zeng Y.P., Ma D.L. Tufted angioma arising at a site of BCG vaccination. Eur J Dermatol. 2013; 23(1): 102–3.
  11. Choi J.W., Na J.I., Hong J.S., et al. Intractable tufted Angioma associated with Kasabach-Merritt syndrome. Ann Dermatol. 2013;25(1): 129–30.
  12. Yue X., Zhao X., Dai Y., Shu Q. Episode of Kasabach-Merritt phenomenon following Japanese encephalitis vaccination: case report. Vaccine. 2017 Dec 4; 35(48 Pt B): 6594–7.
  13. Ji Y., Chen S., Yang K., et al. Development of Kasabach–Merritt phenomenon following vaccination: more than a coincidence? J Dermatol. 2018 Oct;45(10):1203–6.
  14. Zhou S., Wang L., Panossian A., et al. Refractory Kaposiform Hemangioendothelioma associated with the chromosomal translocation t(13;16) (q14;p13.3). Pediatr Dev Pathol. 2016 Sep/Oct; 19(5): 417–20.
  15. Lim Y.H., Bacchiocchi A., Qiu J., et al. GNA14 somatic mutation causes congenital and sporadic vascular tumors by MAPK activation. Am J Hum Genet. 2016 Aug 4; 99(2): 443-50.
  16. Bean G.R., Joseph N.M., Folpe A.L., et al. Recurrent GNA14 mutations in anastomosing haemangiomas. Histopathology. 2018;73(2): 354–7.
  17. Ayturk U.M., Couto J.A., Hann S., et al. Somatic activating mutations in GNAQ and GNA11 are associated with congenital Hemangioma. Am J Hum Genet. 2016 Apr 7; 98(4): 789–95.
  18. Shirley M.D., Tang H., Gallione C.J., et al. Sturge-weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013 May 23; 368(21): 1971–9.
  19. Couto J.A., Huang L., Vivero M.P., et al. Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations. Plast Reconstr Surg. 2016 Jan; 137(1): 77e–82e.
  20. Van Raamsdonk C.D., Bezrookove V., Green G., et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature. 2009 Jan 29; 457(7229): 599–602.
  21. Joseph N.M., Brunt E.M., Marginean C., et al. Frequent GNAQ and GNA14 mutations in hepatic small vessel neoplasm. The Am J Surg Pathol. 2018 Sep;42(9):1201-1207.
  22. Couto J.A., Ayturk U.M., Konczyk D.J., et al. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis. 2017; 20(3): 303–6.
  23. Hutchings C.J., Koglin M., Olson W.C., et al. Opportunities for therapeutic antibodies directed at G-protein-coupled receptors. Nat Rev Drug Discov. 2017; 16(9): 787–810.
  24. Adams D.M., Brandão L.R., Peterman C.M., et al. Vascular anomaly cases for the pediatric hematologist oncologists-An interdisciplinary review. Pediatr Blood Cancer; 2018 Jan; 65(1).
  25. Mahajan P., Margolin J., Iacobas I. Kasabach-Merritt Phenomenon: Classic Presentation and Management Options. Clin Med Insights Blood Disord. 2017 Mar 16; 10: 1179545X17699849.
  26. Ji Y., Yang K., Peng S., et al. Kaposiform haemangioendothelioma: clinical features, complications and risk factors for Kasabach-Merritt phenomenon. Br J Dermatol. 2018; 179(2): 457–63.
  27. ISSVA Classification of Vascular Anomalies 2018 International Society for the Study of Vascular Anomalies. https://www.issva.org/classification (аccessed 25.01.2022)
  28. Wassef M., Blei F., Adams D., et al. ISSVA Board and Scientific Committee. Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies. Pediatrics. 2015 Jul; 136(1): e203–14.
  29. Enjorlas O., Mulliken J.B, Wassef M., et al. Residual lesions after Kassabach–Merritt phenomenon in 41 patients. J Am Acad Dermatol. 2000; 42(2 Pt 1): 225–35.
  30. Szabo S., North P.E. Histopathology and pathogenesis of vascular tumors and malformations. New York: Springer-Verlag; 2016.
  31. Foley L.S., Kulungowski A.M. Vascular anomalies in pediatrics. Adv Pediatr. 2015; 62(1): 227-55.
  32. Croteau S.E., Liang M.G., Kozakewich H.P. et al. Kaposiform hemangioendothelioma: atypical features and risks of Kasabach-Merritt phenomenon in 107 referrals. J Pediatr. 2013; 162(1): 142–7.
  33. O’Rafferty C., O’Regan G.M., Irvine A.D., Smith O.P. Recent advances in the pathobiology and management of Kasabach-Merritt phenomenon. Br J Haematol. 2015; 171(1): 38–51.
  34. Kelly M. Kasabach-Merritt phenomenon. Pediatr Clin North Am. 2010; 57(5): 1085–9.
  35. Drolet B.A., Trenor C.C., Brandão L.R., et al. Consensus-derived practice standards plan for complicated Kaposiform hemangioendothelioma. J Pediatr. 2013; 163(1): 285–91.
  36. Gong X., Ying H., Zhang Z., et al. Ultrasonography and magnetic resonance imaging features of kaposiform hemangioendothelioma and tufted angioma. J Dermatol. 2019; 46(10): 835–42.
  37. Lyons L.L., North P.E., Mac-Moune L.F., et al. Kaposiform hemangioendothelioma: a study of 33 cases emphasizing its pathologic, immunophenotypic, and biologic uniqueness from juvenile hemangioma. Am J Surg Pathol. 2004; 28(5): 559–68.
  38. Enjolras O., Wassef M., Mazoyer E., et al. Infants with Kasabach-Merritt syndrome do not have "true" hemangiomas. J Pediatr. 1997; 130(4): 631–40.
  39. Sarkar M., Mulliken J.B., Kozakewich H.P., et al. Thrombocytopenic coagulopathy (Kasabach-Merritt phenomenon) is associated with Kaposiform hemangioendothelioma and not with common infantile hemangioma. Plast Reconstr Surg. 1997; 100(6): 1377–86.
  40. Baselga E., Cordisco M.R., Garzon M., et al. Rapidly involuting congenital haemangioma associated with transient thrombocytopenia and coagulopathy: a case series. Br J Dermatol. 2008; 158(6): 1363–70.
  41. Dompmartin A., Vikkula M., Boon L.M. Venous malformation: update on aetiopathogenesis, diagnosis and management. Phlebology. 2010; 25(5): 224–35.
  42. Boland J.M., Tazelaar H.D., Colby T.V., et al. Diffuse pulmonary lymphatic disease presenting as interstitial lung disease in adulthood: report of 3 cases. Am J Surg Pathol. 2012; 36(10): 1548–54.
  43. Croteau S.E., Kozakewich H.P., Perez-Atayde A.R., et al. Kaposiform lymphangiomatosis: a distinct aggressive lymphatic anomaly. J Pediatr. 2014; 164(2): 383–8.
  44. Safi F., Gupta A., Adams D., et al. Kaposiform lymphangiomatosis, a newly characterized vascular anomaly presenting with hemoptysis in an adult woman. Ann Am Thorac Soc. 2014; 11(1): 92–5.
  45. Barclay S.F., Inman K.W., Luks V.L., et al. A somatic activating NRAS variant associated with kaposiform lymphangiomatosis. Genet Med. 2019; 21(7): 1517–24.
  46. Iacobas I., Simon M.L., Amir T. et al. Decreased vascularization of retroperitoneal kaposiform hemangioendothelioma induced by treatment with sirolimus explains relief of symptoms. Clin Imaging. 2015; 39(3): 529–32.
  47. Wang Z., Li K., Dong K., et al. Successful treatment of KasabachMerritt phenomenon arising from Kaposiform hemangioendothelioma by sirolimus. J Pediatr Hematol Oncol. 2015; 37(1):72–3.
  48. Lackner H., Karastaneva A., Schwinger W. et al. Sirolimus for the treatment of children with various complicated vascular anomalies. Eur J Pediatr. 2015; 174(12): 1579–84.
  49. Oza V.S., Mamlouk M.D., Hess C.P., et al. Role of sirolimus in advanced kaposiform hemangioendothelioma. Pediatr Dermatol. Oza VS, Mamlouk M.D., Hess C.P., Mathes E.F., Frieden I.J. Role of sirolimus in advanced kaposiform hemangioendothelioma. Pediatr Dermatol. 2016; 33(02): e88–e92.
  50. Huber S., Bruns C.J., Schmid G. et al. Inhibition of the mammalian target of rapamycin impedes lymphangiogenesis. Kidney Int. 2007; 71(8): 771–7.
  51. Hammill A.M., Wentzel M., Gupta A., et al. Sirolimus for the treatment of complicated vascular anomalies in children. Pediatr Blood Cancer. 2011; 57(6): 1018–24.
  52. Adams D.M., Trenor C.C., Hammill A.M., et al. Efficacy and safety of sirolimus in the treatment of complicated vascular anomalies. Pediatrics. 2016; 137(2): e20153257.
  53. Uno T., Ito S., Nakazawa A., et al. Successful treatment of Kaposiform hemangioendothelioma with everolimus. Pediatr Blood Cancer. 2015; 62(3): 536–8.
  54. Matsumoto H., Ozeki M., Hori T. et al. Successful everolimus treatment of kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon: clinical efficacy and adverse effects of mTOR inhibitor therapy. J Pediatr Hematol Oncol. 2016; 38(8): e322-e325.
  55. ClinicalTrials.gov identifier NCT02110069 A Study to Compare Vincristine to Sirolimus for Treatment of High Risk Vascular Tumors. https://clinicaltrials.gov/ct2/show/NCT02110069 (аccessed 25.01.2022)
  56. Ishikawa K., Hatano Y., Ichikawa H., et al. The spontaneous regression of tufted angioma.A case of regression after two recurrences and a review of 27 cases reported in the literature. Dermatology. 2005; 210(4): 346–8.
  57. Chiu Y.E., Drolet B.A., Blei F., et al. Variable response to propranolol treatment of kaposiform hemangioendothelioma, tufted angioma, and Kasabach-Merritt phenomenon. Pediatr Blood Cancer. 2012; 59(5): 934–8.
  58. Lanöel A., Torres Huamani A.N., Feliú A., et al. Treatment of kaposiform hemangioendothelioma and tufted angioma with sirolimus, a case clinical series Abstract presented at: Biannual Meeting of International Society for the Study of Vascular Anomalies. Buenos Aires, Argentina. April 27–28, 2016.
  59. Донюш Е.К., Кондрашова З.А., Поляев Ю.А., и др. Опыт использования сиролимуса в лечении детей с сосудистыми аномалиями. Российский журнал детской гематологии и онкологии. 2020; 7(3): 22–31.
  60. Burleigh A., Kanigsberg N., Lam J.M.. Topical rapamycin (sirolimus) for the treatment of uncomplicated tufted angiomas in two children and review of the literature. Pediatr Dermatol. 2018; 35(5): e286–e290.
  61. Zhang X., Yang K., Chen S., et al. Tacrolimus ointment for the treatment of superficial kaposiform hemangioendothelioma and tufted angioma. J Dermatol. 2019; 46(10): 898–901.

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